Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148172390_148172391del , CM000669.2:g.148172390_148172391del | GRCh38 |
| NC_000007.13:g.147869482_147869483del , CM000669.1:g.147869482_147869483del | GRCh37 |
| NC_000007.12:g.147500415_147500416del | NCBI36 |
| NG_007092.2:g.2061030_2061031del | |
| NG_007092.3:g.2061390_2061391del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.2922_2923del MANE Select | ENSP00000354778.3:p.Cys974Ter | |
| ENST00000636870.1:n.2784_2785del | ||
| ENST00000636988.1:n.7_8del | ||
| ENST00000637020.1:n.740_741del | ||
| ENST00000361727.7:c.2922_2923del | ENSP00000354778.3:p.Cys974Ter | |
| ENST00000627772.2:n.1095_1096del | ||
| ENST00000628930.2:c.99_100del | ENSP00000487516.1:p.Cys33Ter | |
| NM_014141.5:c.2922_2923del | NP_054860.1:p.Cys974Ter | |
| XM_006715919.1:c.1410_1411del | XP_006715982.1:p.Cys470Ter | |
| NM_014141.6:c.2922_2923del MANE Select | NP_054860.1:p.Cys974Ter |